Q6* (p.Gln6Ter) variant of SLC2A4 (P14672)
Q6* (p.Gln6Ter) in SLC2A4 (P14672) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
Q6* (p.Gln6Ter) variant details
- p.Gln6Ter
- gnomAD 17-7281950-C-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.866
- CADD 39.00
- Population evidence available
- Structural context available
- Literature evidence available